Canonical Allele Identifier: CA013801
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181226
ClinVar RCV Id: RCV000223885 RCV000766447 RCV000794278
dbSNP Id: rs546586969
ExAC: 14:23889229 T / A
gnomAD v2: 14-23889229-T-A
gnomAD v3: 14-23420020-T-A
gnomAD v4: 14-23420020-T-A
MyVariant Identifiers: chr14:g.23889229T>A (hg19) chr14:g.23420020T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420020T>A , CM000676.2:g.23420020T>A GRCh38
NC_000014.8:g.23889229T>A , CM000676.1:g.23889229T>A GRCh37
NC_000014.7:g.22959069T>A NCBI36
NG_007884.1:g.20642A>T , LRG_384:g.20642A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3551A>T MANE Select ENSP00000347507.3:p.Gln1184Leu
ENST00000355349.3:c.3551A>T ENSP00000347507.3:p.Gln1184Leu
NM_000257.3:c.3551A>T NP_000248.2:p.Gln1184Leu
XM_017021340.1:c.3551A>T XP_016876829.1:p.Gln1184Leu
NM_000257.4:c.3551A>T MANE Select NP_000248.2:p.Gln1184Leu
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Search 100 bp 3'