Canonical Allele Identifier: CA015008
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 43020
ClinVar RCV Id: RCV000035914 RCV000172762 RCV000203136 RCV000254102 RCV000331016 RCV000712360 RCV000758034 RCV000852699
dbSNP Id: rs3729823
ExAC: 14:23886409 G / C
gnomAD v2: 14-23886409-G-C
gnomAD v3: 14-23417200-G-C
gnomAD v4: 14-23417200-G-C
MyVariant Identifiers: chr14:g.23886409G>C (hg19) chr14:g.23417200G>C (hg38)
ERepo: CA015008/MONDO:0004994/002
PubMed: PMID:11861413 PMID:15358028 PMID:15483641 PMID:20301606 PMID:23861362 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417200G>C , CM000676.2:g.23417200G>C GRCh38
NC_000014.8:g.23886409G>C , CM000676.1:g.23886409G>C GRCh37
NC_000014.7:g.22956249G>C NCBI36
NG_007884.1:g.23462C>G , LRG_384:g.23462C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4472C>G (MYH7) MANE Select ENSP00000347507.3:p.Ser1491Cys
ENST00000355349.3:c.4472C>G (MYH7) ENSP00000347507.3:p.Ser1491Cys
NM_000257.3:c.4472C>G (MYH7) NP_000248.2:p.Ser1491Cys
NR_126491.1:n.652-12G>C (MHRT)
XM_017021340.1:c.4472C>G (MYH7) XP_016876829.1:p.Ser1491Cys
NM_000257.4:c.4472C>G (MYH7) MANE Select NP_000248.2:p.Ser1491Cys
Search 100 bp 5'
Search 100 bp 3'