Canonical Allele Identifier: CA389052279
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 689573
ClinVar RCV Id: RCV000850326
dbSNP Id: rs1595089491
gnomAD v4: 14-23431643-G-A
MyVariant Identifiers: chr14:g.23900852G>A (hg19) chr14:g.23431643G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431643G>A , CM000676.2:g.23431643G>A GRCh38
NC_000014.8:g.23900852G>A , CM000676.1:g.23900852G>A GRCh37
NC_000014.7:g.22970692G>A NCBI36
NG_007884.1:g.9019C>T , LRG_384:g.9019C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.674C>T MANE Select ENSP00000347507.3:p.Pro225Leu
ENST00000355349.3:c.674C>T ENSP00000347507.3:p.Pro225Leu
NM_000257.3:c.674C>T NP_000248.2:p.Pro225Leu
XR_245686.3:n.780C>T
XM_017021340.1:c.674C>T XP_016876829.1:p.Pro225Leu
NM_000257.4:c.674C>T MANE Select NP_000248.2:p.Pro225Leu
Search 100 bp 5'
Search 100 bp 3'