Canonical Allele Identifier: CA346663490

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43846208-G-T
• MyVariant Identifiers: chr2:g.44073347G>T (hg19) ; chr2:g.43846208G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846208G>T , CM000664.2:g.43846208G>T	GRCh38
NC_000002.11:g.44073347G>T , CM000664.1:g.44073347G>T	GRCh37
NC_000002.10:g.43926851G>T	NCBI36
NG_008884.1:g.12245G>T
NG_008884.2:g.19267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.219G>T MANE Select	ENSP00000272286.2:p.Met73Ile
ENST00000643284.1:n.676G>T
ENST00000644611.1:c.231G>T	ENSP00000495423.1:p.Met77Ile
ENST00000272286.2:c.219G>T	ENSP00000272286.2:p.Met73Ile
NM_022437.2:c.219G>T	NP_071882.1:p.Met73Ile
XM_005264483.2:c.219G>T	XP_005264540.1:p.Met73Ile
XM_011533029.1:c.231G>T	XP_011531331.1:p.Met77Ile
XM_011533030.1:c.231G>T	XP_011531332.1:p.Met77Ile
XM_011533031.1:c.3G>T	XP_011531333.1:p.Met1Ile
XR_939707.1:n.721G>T
NM_001357321.1:c.219G>T	NP_001344250.1:p.Met73Ile
XM_011533029.2:c.231G>T	XP_011531331.1:p.Met77Ile
XM_011533030.2:c.231G>T	XP_011531332.1:p.Met77Ile
XR_001738891.1:n.735G>T
XR_939707.2:n.735G>T
NM_022437.3:c.219G>T MANE Select	NP_071882.1:p.Met73Ile
NM_001357321.2:c.219G>T	NP_001344250.1:p.Met73Ile