Canonical Allele Identifier: CA346671174

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44104924G>C (hg19) ; chr2:g.43877785G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877785G>C , CM000664.2:g.43877785G>C	GRCh38
NC_000002.11:g.44104924G>C , CM000664.1:g.44104924G>C	GRCh37
NC_000002.10:g.43958428G>C	NCBI36
NG_008884.1:g.43822G>C
NG_008884.2:g.50844G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1894G>C MANE Select	ENSP00000272286.2:p.Val632Leu
ENST00000272286.2:c.1894G>C	ENSP00000272286.2:p.Val632Leu
NM_022437.2:c.1894G>C	NP_071882.1:p.Val632Leu
XM_005264483.2:c.1891G>C	XP_005264540.1:p.Val631Leu
XM_011533029.1:c.1906G>C	XP_011531331.1:p.Val636Leu
XM_011533030.1:c.1903G>C	XP_011531332.1:p.Val635Leu
XM_011533031.1:c.1678G>C	XP_011531333.1:p.Val560Leu
XR_939707.1:n.2396G>C
NM_001357321.1:c.1891G>C	NP_001344250.1:p.Val631Leu
XM_011533029.2:c.1906G>C	XP_011531331.1:p.Val636Leu
XM_011533030.2:c.1903G>C	XP_011531332.1:p.Val635Leu
XR_001738891.1:n.2410G>C
XR_939707.2:n.2410G>C
NM_022437.3:c.1894G>C MANE Select	NP_071882.1:p.Val632Leu
NM_001357321.2:c.1891G>C	NP_001344250.1:p.Val631Leu