Canonical Allele Identifier: CA346668756

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43872000-G-T
• MyVariant Identifiers: chr2:g.44099139G>T (hg19) ; chr2:g.43872000G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872000G>T , CM000664.2:g.43872000G>T	GRCh38
NC_000002.11:g.44099139G>T , CM000664.1:g.44099139G>T	GRCh37
NC_000002.10:g.43952643G>T	NCBI36
NG_008884.1:g.38037G>T
NG_008884.2:g.45059G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.989G>T MANE Select	ENSP00000272286.2:p.Arg330Leu
ENST00000644611.1:c.1001G>T	ENSP00000495423.1:p.Arg334Leu
ENST00000272286.2:c.989G>T	ENSP00000272286.2:p.Arg330Leu
NM_022437.2:c.989G>T	NP_071882.1:p.Arg330Leu
XM_005264483.2:c.989G>T	XP_005264540.1:p.Arg330Leu
XM_011533029.1:c.1001G>T	XP_011531331.1:p.Arg334Leu
XM_011533030.1:c.1001G>T	XP_011531332.1:p.Arg334Leu
XM_011533031.1:c.773G>T	XP_011531333.1:p.Arg258Leu
XR_939707.1:n.1491G>T
NM_001357321.1:c.989G>T	NP_001344250.1:p.Arg330Leu
XM_011533029.2:c.1001G>T	XP_011531331.1:p.Arg334Leu
XM_011533030.2:c.1001G>T	XP_011531332.1:p.Arg334Leu
XR_001738891.1:n.1505G>T
XR_939707.2:n.1505G>T
NM_022437.3:c.989G>T MANE Select	NP_071882.1:p.Arg330Leu
NM_001357321.2:c.989G>T	NP_001344250.1:p.Arg330Leu