Canonical Allele Identifier: CA346669366

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43873861T>C , CM000664.2:g.43873861T>C	GRCh38
NC_000002.11:g.44101000T>C , CM000664.1:g.44101000T>C	GRCh37
NC_000002.10:g.43954504T>C	NCBI36
NG_008884.1:g.39898T>C
NG_008884.2:g.46920T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1286T>C MANE Select	NP_071882.1:p.Met429Thr
ENST00000272286.4:c.1286T>C MANE Select	ENSP00000272286.2:p.Met429Thr
NM_001357321.1:c.1283T>C	NP_001344250.1:p.Met428Thr
NM_001357321.2:c.1283T>C	NP_001344250.1:p.Met428Thr
NM_022437.2:c.1286T>C	NP_071882.1:p.Met429Thr
ENST00000272286.2:c.1286T>C	ENSP00000272286.2:p.Met429Thr
ENST00000644611.1:c.1298T>C	ENSP00000495423.1:p.Met433Thr
XM_005264483.2:c.1283T>C	XP_005264540.1:p.Met428Thr
XM_011533029.1:c.1298T>C	XP_011531331.1:p.Met433Thr
XM_011533029.2:c.1298T>C	XP_011531331.1:p.Met433Thr
XM_011533030.1:c.1295T>C	XP_011531332.1:p.Met432Thr
XM_011533030.2:c.1295T>C	XP_011531332.1:p.Met432Thr
XM_011533031.1:c.1070T>C	XP_011531333.1:p.Met357Thr
XR_001738891.1:n.1802T>C
XR_939707.1:n.1788T>C
XR_939707.2:n.1802T>C