Canonical Allele Identifier: CA2638189672

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249675-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249675C>A , CM000679.2:g.44249675C>A	GRCh38
NC_000017.10:g.42327043C>A , CM000679.1:g.42327043C>A	GRCh37
NC_000017.9:g.39682569C>A	NCBI36
NG_007498.1:g.23460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*783G>T MANE Select	ENSP00000262418.6:n.*783G>T
ENST00000262418.10:c.*783G>T	ENSP00000262418.6:n.*783G>T
ENST00000399246.3:c.*783G>T	ENSP00000382190.3:n.*783G>T
ENST00000631130.1:c.-425G>T	ENSP00000486787.1:n.-425G>T
NM_000342.3:c.*783G>T	NP_000333.1:n.*783G>T
XM_005257593.3:c.*783G>T	XP_005257650.1:n.*783G>T
XM_011525129.1:c.*783G>T	XP_011523431.1:n.*783G>T
XM_005257593.5:c.*783G>T	XP_005257650.1:n.*783G>T
XM_011525129.2:c.*783G>T	XP_011523431.1:n.*783G>T
NM_000342.4:c.*783G>T MANE Select	NP_000333.1:n.*783G>T