Canonical Allele Identifier: CA8600410

Gene: SLC4A1

Linked Data

• dbSNP Id: rs554068015
• ExAC: 17:42335889 G / C
• gnomAD v2: 17-42335889-G-C
• gnomAD v3: 17-44258521-G-C
• gnomAD v4: 17-44258521-G-C
• MyVariant Identifiers: chr17:g.42335889G>C (hg19) ; chr17:g.44258521G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44258521G>C , CM000679.2:g.44258521G>C	GRCh38
NC_000017.10:g.42335889G>C , CM000679.1:g.42335889G>C	GRCh37
NC_000017.9:g.39691415G>C	NCBI36
NG_007498.1:g.14614C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262418.12:c.979C>G MANE Select	ENSP00000262418.6:p.Pro327Ala
ENST00000262418.10:c.979C>G	ENSP00000262418.6:p.Pro327Ala
ENST00000399246.3:c.777+741C>G	ENSP00000382190.3:n.777+741C>G
ENST00000497360.5:n.1118C>G
NM_000342.3:c.979C>G	NP_000333.1:p.Pro327Ala
XM_005257593.3:c.784C>G	XP_005257650.1:p.Pro262Ala
XM_011525129.1:c.979C>G	XP_011523431.1:p.Pro327Ala
XM_011525130.1:c.979C>G	XP_011523432.1:p.Pro327Ala
XM_011525131.1:c.979C>G	XP_011523433.1:p.Pro327Ala
XM_005257593.5:c.784C>G	XP_005257650.1:p.Pro262Ala
XM_011525129.2:c.979C>G	XP_011523431.1:p.Pro327Ala
NM_000342.4:c.979C>G MANE Select	NP_000333.1:p.Pro327Ala