Canonical Allele Identifier: CA389038878
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

dbSNP Id: rs1459134903
gnomAD v2: 14-23886513-C-T
COSMIC: COSM4547975
MyVariant Identifiers: chr14:g.23886513C>T (hg19) chr14:g.23417304C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417304C>T , CM000676.2:g.23417304C>T GRCh38
NC_000014.8:g.23886513C>T , CM000676.1:g.23886513C>T GRCh37
NC_000014.7:g.22956353C>T NCBI36
NG_007884.1:g.23358G>A , LRG_384:g.23358G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4368G>A (MYH7) MANE Select ENSP00000347507.3:p.Trp1456Ter
ENST00000355349.3:c.4368G>A (MYH7) ENSP00000347507.3:p.Trp1456Ter
NM_000257.3:c.4368G>A (MYH7) NP_000248.2:p.Trp1456Ter
NR_126491.1:n.744C>T (MHRT)
XM_017021340.1:c.4368G>A (MYH7) XP_016876829.1:p.Trp1456Ter
NM_000257.4:c.4368G>A (MYH7) MANE Select NP_000248.2:p.Trp1456Ter
Search 100 bp 5'
Search 100 bp 3'