Canonical Allele Identifier: CA042012
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1317127
ClinVar RCV Id: RCV001758999 RCV004009036
dbSNP Id: rs370093487
ExAC: 14:23886534 G / C
gnomAD v2: 14-23886534-G-C
gnomAD v3: 14-23417325-G-C
gnomAD v4: 14-23417325-G-C
MyVariant Identifiers: chr14:g.23886534G>C (hg19) chr14:g.23417325G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417325G>C , CM000676.2:g.23417325G>C GRCh38
NC_000014.8:g.23886534G>C , CM000676.1:g.23886534G>C GRCh37
NC_000014.7:g.22956374G>C NCBI36
NG_007884.1:g.23337C>G , LRG_384:g.23337C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4354-7C>G (MYH7) MANE Select ENSP00000347507.3:n.4354-7C>G
ENST00000355349.3:c.4354-7C>G (MYH7) ENSP00000347507.3:n.4354-7C>G
NM_000257.3:c.4354-7C>G (MYH7) NP_000248.2:n.4354-7C>G
NR_126491.1:n.765G>C (MHRT)
XM_017021340.1:c.4354-7C>G (MYH7) XP_016876829.1:n.4354-7C>G
NM_000257.4:c.4354-7C>G (MYH7) MANE Select NP_000248.2:n.4354-7C>G
Search 100 bp 5'
Search 100 bp 3'