Canonical Allele Identifier: CA2575486453

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415877T>G , CM000676.2:g.23415877T>G GRCh38
NC_000014.8:g.23885086T>G , CM000676.1:g.23885086T>G GRCh37
NC_000014.7:g.22954926T>G NCBI36
NG_007884.1:g.24785A>C , LRG_384:g.24785A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4954-45A>C (MYH7) MANE Select ENSP00000347507.3:n.4954-45A>C
ENST00000355349.3:c.4954-45A>C (MYH7) ENSP00000347507.3:n.4954-45A>C
NM_000257.3:c.4954-45A>C (MYH7) NP_000248.2:n.4954-45A>C
NR_126491.1:n.261+48T>G (MHRT)
XM_017021340.1:c.4954-45A>C (MYH7) XP_016876829.1:n.4954-45A>C
NM_000257.4:c.4954-45A>C (MYH7) MANE Select NP_000248.2:n.4954-45A>C