Canonical Allele Identifier: CA2638189712

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44249737-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44249737A>G , CM000679.2:g.44249737A>G	GRCh38
NC_000017.10:g.42327105A>G , CM000679.1:g.42327105A>G	GRCh37
NC_000017.9:g.39682631A>G	NCBI36
NG_007498.1:g.23398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.*721T>C MANE Select	ENSP00000262418.6:n.*721T>C
ENST00000262418.10:c.*721T>C	ENSP00000262418.6:n.*721T>C
ENST00000399246.3:c.*721T>C	ENSP00000382190.3:n.*721T>C
ENST00000631130.1:c.-487T>C	ENSP00000486787.1:n.-487T>C
NM_000342.3:c.*721T>C	NP_000333.1:n.*721T>C
XM_005257593.3:c.*721T>C	XP_005257650.1:n.*721T>C
XM_011525129.1:c.*721T>C	XP_011523431.1:n.*721T>C
XM_005257593.5:c.*721T>C	XP_005257650.1:n.*721T>C
XM_011525129.2:c.*721T>C	XP_011523431.1:n.*721T>C
NM_000342.4:c.*721T>C MANE Select	NP_000333.1:n.*721T>C