Canonical Allele Identifier: CA613318030
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1412906276
gnomAD v2: 14-23889572-T-A
gnomAD v3: 14-23420363-T-A
gnomAD v4: 14-23420363-T-A
MyVariant Identifiers: chr14:g.23889572T>A (hg19) chr14:g.23420363T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420363T>A , CM000676.2:g.23420363T>A GRCh38
NC_000014.8:g.23889572T>A , CM000676.1:g.23889572T>A GRCh37
NC_000014.7:g.22959412T>A NCBI36
NG_007884.1:g.20299A>T , LRG_384:g.20299A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3337-129A>T MANE Select ENSP00000347507.3:n.3337-129A>T
ENST00000355349.3:c.3337-129A>T ENSP00000347507.3:n.3337-129A>T
NM_000257.3:c.3337-129A>T NP_000248.2:n.3337-129A>T
XR_245686.3:n.3445-129A>T
XM_017021340.1:c.3337-129A>T XP_016876829.1:n.3337-129A>T
NM_000257.4:c.3337-129A>T MANE Select NP_000248.2:n.3337-129A>T
Search 100 bp 5'
Search 100 bp 3'