Canonical Allele Identifier: CA2573149777
Gene: MYH7 HGNC NCBI
MHRT HGNC NCBI

Linked Data

ClinVar Variation Id: 1667247
ClinVar RCV Id: RCV002195724
dbSNP Id: rs2854800
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417485C>A , CM000676.2:g.23417485C>A GRCh38
NC_000014.8:g.23886694C>A , CM000676.1:g.23886694C>A GRCh37
NC_000014.7:g.22956534C>A NCBI36
NG_007884.1:g.23177G>T , LRG_384:g.23177G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4353+18G>T (MYH7) MANE Select ENSP00000347507.3:n.4353+18G>T
ENST00000355349.3:c.4353+18G>T (MYH7) ENSP00000347507.3:n.4353+18G>T
NM_000257.3:c.4353+18G>T (MYH7) NP_000248.2:n.4353+18G>T
NR_126491.1:n.814-48C>A (MHRT)
XM_017021340.1:c.4353+18G>T (MYH7) XP_016876829.1:n.4353+18G>T
NM_000257.4:c.4353+18G>T (MYH7) MANE Select NP_000248.2:n.4353+18G>T
Search 100 bp 5'
Search 100 bp 3'