Canonical Allele Identifier: CA1637575

Gene: ABCG8

Linked Data

• dbSNP Id: rs140690030
• ExAC: 2:44102441 G / C
• gnomAD v2: 2-44102441-G-C
• gnomAD v4: 2-43875302-G-C
• MyVariant Identifiers: chr2:g.44102441G>C (hg19) ; chr2:g.43875302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875302G>C , CM000664.2:g.43875302G>C	GRCh38
NC_000002.11:g.44102441G>C , CM000664.1:g.44102441G>C	GRCh37
NC_000002.10:g.43955945G>C	NCBI36
NG_008884.1:g.41339G>C
NG_008884.2:g.48361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1645G>C MANE Select	ENSP00000272286.2:p.Ala549Pro
ENST00000272286.2:c.1645G>C	ENSP00000272286.2:p.Ala549Pro
NM_022437.2:c.1645G>C	NP_071882.1:p.Ala549Pro
XM_005264483.2:c.1642G>C	XP_005264540.1:p.Ala548Pro
XM_011533029.1:c.1657G>C	XP_011531331.1:p.Ala553Pro
XM_011533030.1:c.1654G>C	XP_011531332.1:p.Ala552Pro
XM_011533031.1:c.1429G>C	XP_011531333.1:p.Ala477Pro
XR_939707.1:n.2147G>C
NM_001357321.1:c.1642G>C	NP_001344250.1:p.Ala548Pro
XM_011533029.2:c.1657G>C	XP_011531331.1:p.Ala553Pro
XM_011533030.2:c.1654G>C	XP_011531332.1:p.Ala552Pro
XR_001738891.1:n.2161G>C
XR_939707.2:n.2161G>C
NM_022437.3:c.1645G>C MANE Select	NP_071882.1:p.Ala549Pro
NM_001357321.2:c.1642G>C	NP_001344250.1:p.Ala548Pro