Canonical Allele Identifier: CA46474660

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2438789
• ClinVar RCV Id: RCV003139541
• dbSNP Id: rs996034901
• MyVariant Identifiers: chr2:g.44104928T>C (hg19) ; chr2:g.43877789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877789T>C , CM000664.2:g.43877789T>C	GRCh38
NC_000002.11:g.44104928T>C , CM000664.1:g.44104928T>C	GRCh37
NC_000002.10:g.43958432T>C	NCBI36
NG_008884.1:g.43826T>C
NG_008884.2:g.50848T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1898T>C MANE Select	ENSP00000272286.2:p.Met633Thr
ENST00000272286.2:c.1898T>C	ENSP00000272286.2:p.Met633Thr
NM_022437.2:c.1898T>C	NP_071882.1:p.Met633Thr
XM_005264483.2:c.1895T>C	XP_005264540.1:p.Met632Thr
XM_011533029.1:c.1910T>C	XP_011531331.1:p.Met637Thr
XM_011533030.1:c.1907T>C	XP_011531332.1:p.Met636Thr
XM_011533031.1:c.1682T>C	XP_011531333.1:p.Met561Thr
XR_939707.1:n.2400T>C
NM_001357321.1:c.1895T>C	NP_001344250.1:p.Met632Thr
XM_011533029.2:c.1910T>C	XP_011531331.1:p.Met637Thr
XM_011533030.2:c.1907T>C	XP_011531332.1:p.Met636Thr
XR_001738891.1:n.2414T>C
XR_939707.2:n.2414T>C
NM_022437.3:c.1898T>C MANE Select	NP_071882.1:p.Met633Thr
NM_001357321.2:c.1895T>C	NP_001344250.1:p.Met632Thr