Canonical Allele Identifier: CA1637698

Gene: ABCG8

Linked Data

• dbSNP Id: rs752343755
• ExAC: 2:44104841 G / C
• gnomAD v2: 2-44104841-G-C
• gnomAD v4: 2-43877702-G-C
• MyVariant Identifiers: chr2:g.44104841G>C (hg19) ; chr2:g.43877702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877702G>C , CM000664.2:g.43877702G>C	GRCh38
NC_000002.11:g.44104841G>C , CM000664.1:g.44104841G>C	GRCh37
NC_000002.10:g.43958345G>C	NCBI36
NG_008884.1:g.43739G>C
NG_008884.2:g.50761G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1884+14G>C MANE Select	ENSP00000272286.2:n.1884+14G>C
ENST00000272286.2:c.1884+14G>C	ENSP00000272286.2:n.1884+14G>C
NM_022437.2:c.1884+14G>C	NP_071882.1:n.1884+14G>C
XM_005264483.2:c.1881+14G>C	XP_005264540.1:n.1881+14G>C
XM_011533029.1:c.1896+14G>C	XP_011531331.1:n.1896+14G>C
XM_011533030.1:c.1893+14G>C	XP_011531332.1:n.1893+14G>C
XM_011533031.1:c.1668+14G>C	XP_011531333.1:n.1668+14G>C
XR_939707.1:n.2386+14G>C
NM_001357321.1:c.1881+14G>C	NP_001344250.1:n.1881+14G>C
XM_011533029.2:c.1896+14G>C	XP_011531331.1:n.1896+14G>C
XM_011533030.2:c.1893+14G>C	XP_011531332.1:n.1893+14G>C
XR_001738891.1:n.2400+14G>C
XR_939707.2:n.2400+14G>C
NM_022437.3:c.1884+14G>C MANE Select	NP_071882.1:n.1884+14G>C
NM_001357321.2:c.1881+14G>C	NP_001344250.1:n.1881+14G>C