Canonical Allele Identifier: CA425908261

Gene: ABCG8

Linked Data

• COSMIC: COSM3962862
• MyVariant Identifiers: chr2:g.44104812G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877673G>C , CM000664.2:g.43877673G>C	GRCh38
NC_000002.11:g.44104812G>C , CM000664.1:g.44104812G>C	GRCh37
NC_000002.10:g.43958316G>C	NCBI36
NG_008884.1:g.43710G>C
NG_008884.2:g.50732G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1869G>C MANE Select	ENSP00000272286.2:p.Ala623=
ENST00000272286.2:c.1869G>C	ENSP00000272286.2:p.Ala623=
NM_022437.2:c.1869G>C	NP_071882.1:p.Ala623=
XM_005264483.2:c.1866G>C	XP_005264540.1:p.Ala622=
XM_011533029.1:c.1881G>C	XP_011531331.1:p.Ala627=
XM_011533030.1:c.1878G>C	XP_011531332.1:p.Ala626=
XM_011533031.1:c.1653G>C	XP_011531333.1:p.Ala551=
XR_939707.1:n.2371G>C
NM_001357321.1:c.1866G>C	NP_001344250.1:p.Ala622=
XM_011533029.2:c.1881G>C	XP_011531331.1:p.Ala627=
XM_011533030.2:c.1878G>C	XP_011531332.1:p.Ala626=
XR_001738891.1:n.2385G>C
XR_939707.2:n.2385G>C
NM_022437.3:c.1869G>C MANE Select	NP_071882.1:p.Ala623=
NM_001357321.2:c.1866G>C	NP_001344250.1:p.Ala622=