Canonical Allele Identifier: CA257826081
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs796182815
MyVariant Identifiers: chr14:g.23901056T>A (hg19) chr14:g.23431847T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431847T>A , CM000676.2:g.23431847T>A GRCh38
NC_000014.8:g.23901056T>A , CM000676.1:g.23901056T>A GRCh37
NC_000014.7:g.22970896T>A NCBI36
NG_007884.1:g.8815A>T , LRG_384:g.8815A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.553A>T MANE Select ENSP00000347507.3:p.Thr185Ser
ENST00000355349.3:c.553A>T ENSP00000347507.3:p.Thr185Ser
NM_000257.3:c.553A>T NP_000248.2:p.Thr185Ser
XR_245686.3:n.659A>T
XM_017021340.1:c.553A>T XP_016876829.1:p.Thr185Ser
NM_000257.4:c.553A>T MANE Select NP_000248.2:p.Thr185Ser
Search 100 bp 5'
Search 100 bp 3'