Canonical Allele Identifier: CA187034813

Gene:

Linked Data

• dbSNP Id: rs1044743672
• MyVariant Identifiers: chr8:g.138919004C>G (hg19) ; chr8:g.137906761C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.137906761C>G , CM000670.2:g.137906761C>G	GRCh38
NC_000008.10:g.138919004C>G , CM000670.1:g.138919004C>G	GRCh37
NC_000008.9:g.138988186C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928696.1:n.985+32965G>C
XR_928697.1:n.574-68876G>C
NM_001354876.1:c.250-68876G>C	NP_001341805.1:n.250-68876G>C
XM_024447147.1:c.334-68876G>C	XP_024302915.1:n.334-68876G>C
XM_024447148.1:c.334-68876G>C	XP_024302916.1:n.334-68876G>C
XM_024447149.1:c.250-68876G>C	XP_024302917.1:n.250-68876G>C
XM_024447150.1:c.136-68876G>C	XP_024302918.1:n.136-68876G>C
XM_024447151.1:c.334-68876G>C	XP_024302919.1:n.334-68876G>C
NR_161374.1:n.574-68876G>C