Canonical Allele Identifier: CA399783987

Gene: SLC4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44255290G>A , CM000679.2:g.44255290G>A	GRCh38
NC_000017.10:g.42332658G>A , CM000679.1:g.42332658G>A	GRCh37
NC_000017.9:g.39688184G>A	NCBI36
NG_007498.1:g.17845C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000342.4:c.1807C>T MANE Select	NP_000333.1:p.Arg603Trp
ENST00000262418.12:c.1807C>T MANE Select	ENSP00000262418.6:p.Arg603Trp
NM_000342.3:c.1807C>T	NP_000333.1:p.Arg603Trp
ENST00000262418.10:c.1807C>T	ENSP00000262418.6:p.Arg603Trp
ENST00000399246.3:c.778-69C>T	ENSP00000382190.3:n.778-69C>T
XM_005257593.3:c.1612C>T	XP_005257650.1:p.Arg538Trp
XM_005257593.5:c.1612C>T	XP_005257650.1:p.Arg538Trp
XM_011525129.1:c.1800+383C>T	XP_011523431.1:n.1800+383C>T
XM_011525129.2:c.1800+383C>T	XP_011523431.1:n.1800+383C>T
XM_011525130.1:c.1807C>T	XP_011523432.1:p.Arg603Trp
XM_011525131.1:c.1807C>T	XP_011523433.1:p.Arg603Trp