Canonical Allele Identifier: CA346670860

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670003146
• gnomAD v3: 2-43877616-G-A
• gnomAD v4: 2-43877616-G-A
• MyVariant Identifiers: chr2:g.44104755G>A (hg19) ; chr2:g.43877616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877616G>A , CM000664.2:g.43877616G>A	GRCh38
NC_000002.11:g.44104755G>A , CM000664.1:g.44104755G>A	GRCh37
NC_000002.10:g.43958259G>A	NCBI36
NG_008884.1:g.43653G>A
NG_008884.2:g.50675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1812G>A MANE Select	ENSP00000272286.2:p.Met604Ile
ENST00000272286.2:c.1812G>A	ENSP00000272286.2:p.Met604Ile
NM_022437.2:c.1812G>A	NP_071882.1:p.Met604Ile
XM_005264483.2:c.1809G>A	XP_005264540.1:p.Met603Ile
XM_011533029.1:c.1824G>A	XP_011531331.1:p.Met608Ile
XM_011533030.1:c.1821G>A	XP_011531332.1:p.Met607Ile
XM_011533031.1:c.1596G>A	XP_011531333.1:p.Met532Ile
XR_939707.1:n.2314G>A
NM_001357321.1:c.1809G>A	NP_001344250.1:p.Met603Ile
XM_011533029.2:c.1824G>A	XP_011531331.1:p.Met608Ile
XM_011533030.2:c.1821G>A	XP_011531332.1:p.Met607Ile
XR_001738891.1:n.2328G>A
XR_939707.2:n.2328G>A
NM_022437.3:c.1812G>A MANE Select	NP_071882.1:p.Met604Ile
NM_001357321.2:c.1809G>A	NP_001344250.1:p.Met603Ile