Canonical Allele Identifier: CA048464
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs748234907
ExAC: 14:23901020 C / T
gnomAD v2: 14-23901020-C-T
gnomAD v4: 14-23431811-C-T
MyVariant Identifiers: chr14:g.23901020C>T (hg19) chr14:g.23431811C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431811C>T , CM000676.2:g.23431811C>T GRCh38
NC_000014.8:g.23901020C>T , CM000676.1:g.23901020C>T GRCh37
NC_000014.7:g.22970860C>T NCBI36
NG_007884.1:g.8851G>A , LRG_384:g.8851G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.589G>A MANE Select ENSP00000347507.3:p.Val197Ile
ENST00000355349.3:c.589G>A ENSP00000347507.3:p.Val197Ile
NM_000257.3:c.589G>A NP_000248.2:p.Val197Ile
XR_245686.3:n.695G>A
XM_017021340.1:c.589G>A XP_016876829.1:p.Val197Ile
NM_000257.4:c.589G>A MANE Select NP_000248.2:p.Val197Ile
Search 100 bp 5'
Search 100 bp 3'