Canonical Allele Identifier: CA346671351

Gene: ABCG8

Linked Data

• dbSNP Id: rs1286838316
• gnomAD v2: 2-44104969-G-C
• gnomAD v3: 2-43877830-G-C
• gnomAD v4: 2-43877830-G-C
• MyVariant Identifiers: chr2:g.44104969G>C (hg19) ; chr2:g.43877830G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877830G>C , CM000664.2:g.43877830G>C	GRCh38
NC_000002.11:g.44104969G>C , CM000664.1:g.44104969G>C	GRCh37
NC_000002.10:g.43958473G>C	NCBI36
NG_008884.1:g.43867G>C
NG_008884.2:g.50889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1939G>C MANE Select	ENSP00000272286.2:p.Val647Leu
ENST00000272286.2:c.1939G>C	ENSP00000272286.2:p.Val647Leu
NM_022437.2:c.1939G>C	NP_071882.1:p.Val647Leu
XM_005264483.2:c.1936G>C	XP_005264540.1:p.Val646Leu
XM_011533029.1:c.1951G>C	XP_011531331.1:p.Val651Leu
XM_011533030.1:c.1948G>C	XP_011531332.1:p.Val650Leu
XM_011533031.1:c.1723G>C	XP_011531333.1:p.Val575Leu
XR_939707.1:n.2441G>C
NM_001357321.1:c.1936G>C	NP_001344250.1:p.Val646Leu
XM_011533029.2:c.1951G>C	XP_011531331.1:p.Val651Leu
XM_011533030.2:c.1948G>C	XP_011531332.1:p.Val650Leu
XR_001738891.1:n.2455G>C
XR_939707.2:n.2455G>C
NM_022437.3:c.1939G>C MANE Select	NP_071882.1:p.Val647Leu
NM_001357321.2:c.1936G>C	NP_001344250.1:p.Val646Leu