Canonical Allele Identifier: CA46470535

Gene: ABCG8

Linked Data

• dbSNP Id: rs937763508
• MyVariant Identifiers: chr2:g.44102170C>T (hg19) ; chr2:g.43875031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875031C>T , CM000664.2:g.43875031C>T	GRCh38
NC_000002.11:g.44102170C>T , CM000664.1:g.44102170C>T	GRCh37
NC_000002.10:g.43955674C>T	NCBI36
NG_008884.1:g.41068C>T
NG_008884.2:g.48090C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-115C>T MANE Select	ENSP00000272286.2:n.1489-115C>T
ENST00000272286.2:c.1489-115C>T	ENSP00000272286.2:n.1489-115C>T
NM_022437.2:c.1489-115C>T	NP_071882.1:n.1489-115C>T
XM_005264483.2:c.1486-115C>T	XP_005264540.1:n.1486-115C>T
XM_011533029.1:c.1501-115C>T	XP_011531331.1:n.1501-115C>T
XM_011533030.1:c.1498-115C>T	XP_011531332.1:n.1498-115C>T
XM_011533031.1:c.1273-115C>T	XP_011531333.1:n.1273-115C>T
XR_939707.1:n.1991-115C>T
NM_001357321.1:c.1486-115C>T	NP_001344250.1:n.1486-115C>T
XM_011533029.2:c.1501-115C>T	XP_011531331.1:n.1501-115C>T
XM_011533030.2:c.1498-115C>T	XP_011531332.1:n.1498-115C>T
XR_001738891.1:n.2005-115C>T
XR_939707.2:n.2005-115C>T
NM_022437.3:c.1489-115C>T MANE Select	NP_071882.1:n.1489-115C>T
NM_001357321.2:c.1486-115C>T	NP_001344250.1:n.1486-115C>T