Canonical Allele Identifier: CA2123469159

Linked Data

dbSNP Id: rs1892269195

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417489C>T , CM000676.2:g.23417489C>T GRCh38
NC_000014.8:g.23886698C>T , CM000676.1:g.23886698C>T GRCh37
NC_000014.7:g.22956538C>T NCBI36
NG_007884.1:g.23173G>A , LRG_384:g.23173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4353+14G>A (MYH7) MANE Select ENSP00000347507.3:n.4353+14G>A
ENST00000355349.3:c.4353+14G>A (MYH7) ENSP00000347507.3:n.4353+14G>A
NM_000257.3:c.4353+14G>A (MYH7) NP_000248.2:n.4353+14G>A
NR_126491.1:n.814-44C>T (MHRT)
XM_017021340.1:c.4353+14G>A (MYH7) XP_016876829.1:n.4353+14G>A
NM_000257.4:c.4353+14G>A (MYH7) MANE Select NP_000248.2:n.4353+14G>A