Canonical Allele Identifier: CA037791
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs764682780
ExAC: 14:23889248 G / C
gnomAD v2: 14-23889248-G-C
gnomAD v4: 14-23420039-G-C
MyVariant Identifiers: chr14:g.23889248G>C (hg19) chr14:g.23420039G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420039G>C , CM000676.2:g.23420039G>C GRCh38
NC_000014.8:g.23889248G>C , CM000676.1:g.23889248G>C GRCh37
NC_000014.7:g.22959088G>C NCBI36
NG_007884.1:g.20623C>G , LRG_384:g.20623C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3532C>G MANE Select ENSP00000347507.3:p.Leu1178Val
ENST00000355349.3:c.3532C>G ENSP00000347507.3:p.Leu1178Val
NM_000257.3:c.3532C>G NP_000248.2:p.Leu1178Val
XM_017021340.1:c.3532C>G XP_016876829.1:p.Leu1178Val
NM_000257.4:c.3532C>G MANE Select NP_000248.2:p.Leu1178Val
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