Canonical Allele Identifier: CA613317710

Gene: MYH7 MHRT

Linked Data

• dbSNP Id: rs745415989
• gnomAD v2: 14-23885165-T-A
• gnomAD v4: 14-23415956-T-A
• MyVariant Identifiers: chr14:g.23885165T>A (hg19) ; chr14:g.23415956T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415956T>A , CM000676.2:g.23415956T>A	GRCh38
NC_000014.8:g.23885165T>A , CM000676.1:g.23885165T>A	GRCh37
NC_000014.7:g.22955005T>A	NCBI36
NG_007884.1:g.24706A>T , LRG_384:g.24706A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4953+48A>T (MYH7) MANE Select	ENSP00000347507.3:n.4953+48A>T
ENST00000355349.3:c.4953+48A>T (MYH7)	ENSP00000347507.3:n.4953+48A>T
NM_000257.3:c.4953+48A>T (MYH7)	NP_000248.2:n.4953+48A>T
NR_126491.1:n.262-45T>A (MHRT)
XM_017021340.1:c.4953+48A>T (MYH7)	XP_016876829.1:n.4953+48A>T
NM_000257.4:c.4953+48A>T (MYH7) MANE Select	NP_000248.2:n.4953+48A>T