Canonical Allele Identifier: CA1637651

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877557C>G , CM000664.2:g.43877557C>G	GRCh38
NC_000002.11:g.44104696C>G , CM000664.1:g.44104696C>G	GRCh37
NC_000002.10:g.43958200C>G	NCBI36
NG_008884.1:g.43594C>G
NG_008884.2:g.50616C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022437.3:c.1757-4C>G MANE Select	NP_071882.1:n.1757-4C>G
ENST00000272286.4:c.1757-4C>G MANE Select	ENSP00000272286.2:n.1757-4C>G
NM_001357321.1:c.1754-4C>G	NP_001344250.1:n.1754-4C>G
NM_001357321.2:c.1754-4C>G	NP_001344250.1:n.1754-4C>G
NM_022437.2:c.1757-4C>G	NP_071882.1:n.1757-4C>G
ENST00000272286.2:c.1757-4C>G	ENSP00000272286.2:n.1757-4C>G
XM_005264483.2:c.1754-4C>G	XP_005264540.1:n.1754-4C>G
XM_011533029.1:c.1769-4C>G	XP_011531331.1:n.1769-4C>G
XM_011533029.2:c.1769-4C>G	XP_011531331.1:n.1769-4C>G
XM_011533030.1:c.1766-4C>G	XP_011531332.1:n.1766-4C>G
XM_011533030.2:c.1766-4C>G	XP_011531332.1:n.1766-4C>G
XM_011533031.1:c.1541-4C>G	XP_011531333.1:n.1541-4C>G
XR_001738891.1:n.2273-4C>G
XR_939707.1:n.2259-4C>G
XR_939707.2:n.2273-4C>G